Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2825234663

Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 2171029

ClinVar RCV Id: RCV003088756

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000637.2:p.Phe1427Leu	CA967400 NM_000646.2:c.4279T>C CA341342337 NM_000646.2:c.4281C>A CA341342338 NM_000646.2:c.4281C>G